Upload
others
View
3
Download
0
Embed Size (px)
Citation preview
Disclosures
I have the following relevant financial relationship(s) in the products or services described, reviewed, evaluated or compared in this presentation.– University of Louisville School of Medicine
Employee
I have no relevant nonfinancial relationship(s) to disclose.
Objectives
Review the history and clinical course of ALS and other motor neuron diseases
Discuss the diagnostic workup and efforts to find anything instead of ALS
Discuss standard of care and the multidisciplinary ALS clinic
Discuss the need to continue the care outside of our clinic, in the community
Objectives
Review the history and clinical course of ALS and other motor neuron diseases
Discuss the diagnostic workup and efforts to find anything instead of ALS
Discuss standard of care and the multidisciplinary ALS clinic
Discuss the need to continue the care outside of our clinic, in the community
History and clinical course
A historical perspective (with an embedded review of neuroanatomy)– Primary lateral sclerosis– Spinal muscular atrophy– Sclérose latérale amyotrophique
Clinical course
“Anatomo-Clinical Method”
Document clinical signs during life
Record anatomical findings at death
Correlate clinical findings to autopsy findings
Primary Lateral Sclerosis
Clinical signs during life:– Slowly progressive weakness &
spasticity, “contractures”– No sensory disturbance– No cognitive disturbance– No involuntary movements– No bowel/bladder incontinence– No muscle atrophy
Primary Lateral Sclerosis
Anatomical findings at death:– Sclerosis (scarring) of
the lateral columns “white matter” throughout the length of the spinal cord
– Gray matter (including anterior horn cells) unaffected
Spinal Muscular Atrophy
“Infantile paralysis” Clinical signs during life:
– Progressive weakness without spasticity; flaccid paralysis
– Muscular atrophy present
Spinal Muscular Atrophy
Anatomical findings at death:
Degeneration was limited to “anterior horn cells”
Lateral columns & all white matter unaffected
2-part Motor System
Motor system divided into two parts:– Damage to lateral columns of white matter,
(now known as lateral corticospinal tracts) caused spastic weakness without atrophy
– Damage to anterior horn cells causes flaccid weakness with muscle atrophy
Sclérose latérale amyotrophique
Some patients had progressive weakness with both spasticity and muscle atrophy
Autopsy confirmed both parts of motor system affected
Amyotrophic – muscle wasting from LMN pathology
Lateral Sclerosis – spasticity from UMN pathology
Amyotrophic Lateral Sclerosis
In the U.S., best known as Lou Gehrig’s Disease
Outside U.S., called “motor neurone disease”
Progressive neurodegenerative disease which almost exclusively affects upper motor neurons and lower motor neurons
ALS Disease Course in 1860s
“…from the first symptom to the fatal end . . . does not usually extend more than three years.”
Disease spreads from one extremity to the others, eventually to the brainstem-innervated “bulbar” muscles
Death is typically due to respiratory failure, with or without pneumonia
Motor Neuron Diseases
Primary Lateral Sclerosis (PLS)– Pure upper motor neuron dysfunction
Amyotrophic Lateral Sclerosis (ALS)– Upper and lower motor neuron dysfunction
Progressive Muscular Atrophy (PMA)– Pure lower motor neuron dysfunction
also Spinal Muscular Atrophy (SMA)– Pure lower motor neuron disease, onset usually in
childhood, hereditary
Objectives
Review the history and clinical course of ALS and other motor neuron diseases
Discuss the diagnostic workup and efforts to find anything instead of ALS
Discuss standard of care and the multidisciplinary ALS clinic
Discuss the need to continue the care outside of our clinic, in the community
“Progressive Weakness”
Progressing? How quickly?– Could be GBS or CIDP
Fluctuating? Diplopia/ptosis?– Could be myasthenia gravis
Sensory disturbance? Pain? – Could be radiculopathy or neuropathy
Any recent illness?– Could be infectious; e.g., West Nile or Zika virus
Bowel/bladder dysfunction?– Myelopathy
Physical Exam
Evaluation should look for:– Upper motor neuron signs Spasticity,hypertonia,hyperreflexia
– Lower motor neuron signs Fasciculations, atrophy
– Symmetry vs. asymmetry– Length-dependent?– Sensory, autonomic, cognitive involvement?– Bulbar/respiratory muscle involvement?
Diagnostic Workup
PLS Mimics: – Myelopathy compressive neoplastic infectious (HIV, HTLV-1)
– Multiple sclerosis/transverse myelitis– Hereditary Spastic Paraparesis– Brainstem glioma– B12 deficiency
Diagnostic Workup
ALS Look-alikes (not many): – B12 deficiency and copper deficiency can
cause UMN and LMN symptoms, but usually with sensory symptoms
– Myeloradiculopathy (compressive, syrinx…) Myelopathy – UMN signs in legs (Babinski, clonus
etc.) Radiculopathy – LMN signs in upper extremity Again, usually with sensory sx’s, probably some
incontinence, too
Diagnostic Workup
PMA Look-alikes:– Multifocal motor neuropathy
Most important mimic of motor neuron disease
– Diabetic and/or inflammatory amyotrophy (e.g., Parsonage-Turner syndrome)
– Infectious (HIV, WNV, other enteroviruses)
– Myopathy, inclusion body myositis– Myasthenic syndromes
Diagnostic Workup
Neurodiagnostic testing– Nerve conduction studies – Electromyography– Neuromuscular ultrasound
Serology based on DDx MRI (brain, C-spine, T-spine +/- L-spine) Genetic testing if FHx present or dementia
Zebras I have never seen(or recognized)
SBMA (Kennedy’s disease) – X-linked recessive, expanded CAG repeat on
the androgen receptor gene– Gynecomastia– Proximal weakness– Early bulbar involvement– Prominent perioral fasciculations– Pure LMN involvement
Zebras I have never seen…
Hexosaminidase A deficiency– Absolute deficiency results in Tay-Sachs
disease– Partial deficiency results in “late-onset Tay-
Sachs disease”– Abnormal metabolism>accumulation of
gangliosides in neurons– LMN disease + cerebellar and/or psychiatric
manifestations
Zebras are common in some parts of the world
Human T-cell lymphotropic virus type 1 (HTLV-1): endemic in Caribbean– Tropical Spastic Paraparesis– Transmission sexual, transfusion or IVDA,
maternal-fetal– Presentation similar to a predominantly motor
transverse myelitis Back pain, leg stiffness, urinary frequency
Objectives
Review the history and clinical course of ALS and other motor neuron diseases
Discuss the diagnostic workup and efforts to find anything instead of ALS
Discuss standard of care and the multidisciplinary ALS clinic
Discuss the need to continue the care outside of our clinic, in the community
Breaking the news
“My biggest concern is…”– “Survival is usually 3-5 years” from onset
“I’m not 100% sure about this…” “I’d like to be wrong…”
– 2nd opinion never unreasonable
“There is a medication that slows the disease, but not by much…”
Riluzole in ALS
NEJM 330(9):585-91, 1994 Mar 3.
“Riluzole had a significant effect on rates of survival and muscular deterioration”
After diagnosis: more testing
Pulmonary Function Testing– FVC, MIP, and MEP; SNIP if orofacial
weakness– Possibly upright and supine– Nocturnal PSG with ETCO2 for hypopneas
Swallow study– MBSS or FEES
Nutrition assessment?
PEG and BiPAP
Practice parameters published in 2009:– PEG should be considered to stabilize weight
and prolong survival Do you fatigue before you get full? Consider PEG early; procedure has risks
– NIV (BiPAP) should be considered in patients with respiratory insufficiency To lengthen survival To improve quality of life Early initiation may increase compliance
More testing
Neuropsychiatric screens– Cognition not always unaffected– Labile “pseudobulbar” affect common– Executive dysfunction not uncommon May impact on treatment decisions/advance
directives
Speech evaluation– Dysarthria often largest barrier to treatment – Augmentative communication
Goals of a Multidisciplinary Clinic
More than a ‘one-stop shop’ Improve patient care Improve communication Avoid omissions Avoid duplications Learn from and teach each other Participate in clinical trials
The Clinic Team
Physician Clinic Coordinator Speech Therapist Respiratory Therapist/Pulmonary Rehab Occupational Therapist Physical Therapist Psychologist Social Services/case manager ALS Association
The Clinic Team
Physician– Diagnosis– Guiding treatment– Medical therapies Riluzole Anticholinergics for sialorrhea Medications for spasticity/cramping Dextromethorphan/Quinidine (NueDexta) for
pseudobulbar affect Antidepressants?
The Clinic Team
Clinic Coordinator/ALS Nurse– This is who is really in charge– Prioritizes clinic visit for each patient – Ensures that plans are carried out– Primary patient/family contact
The Clinic Team
Speech Therapist– Dysphagia Swallow evaluation Safe swallowing techniques When is PEG appropriate? Home suction device?
– Dysarthria Optimize speech Optimize communication – AAC evaluation?
The Clinic Team
Respiratory Therapy/Pulmonary Rehab– Evaluate pulmonary function– Assist with NIPPV or similar– Mechanical in-/exsufflation?– Home suction device?– PPV vs. NPV?– Breath-stacking?
The Clinic Team
Occupational/Physical Therapists– Preserving function in the setting of a
progressive neuromuscular decline– Maintaining independence Patient Patient and caregivers
– Appropriate bracing, stretching & exercise Improving/maintaining function Preventing contractures
– Mobility evaluation when ambulation fails
The Clinic Team
Psychology– Terminal illness: grief, anger, depression are
common, but not always obvious– Pseudobulbar affect– Cognitive impairment – executive dysfunction– Family dynamics
Social services– Resources: disability? transportation?
disposition? Advanced directives?
ALS Association
Encouraging, identifying, funding and monitoring worldwide ALS-directed research.
Addressing the needs of ALS patients and the ALS community.
Advocating for public policy in support of ALS-directed research and ALS-related healthcare issues.
Promoting awareness and understanding of ALS and the role and work of The ALS Association.
Developing, securing and managing resources necessary to grow and support the programs of The Association.
Objectives
Review the history and clinical course of ALS and other motor neuron diseases
Discuss the diagnostic workup and efforts to find anything instead of ALS
Discuss standard of care and the multidisciplinary ALS clinic
Discuss the need to continue the care outside of our clinic, in the community
Extending our clinic
Problem:– Transportation, mobility, caregiver availability
can all make a >3 hour clinic visit too difficult– Long Term Care residents are not eligible
Solution:– Develop a community-wide network of
healthcare providers familiar with motor neuron diseases.
Summary
ALS and other motor neuron diseases suck Nothing stops the decline (yet) Some things can slow the decline Other things can improve quality of life
– You can make a difference– It will change your life
Schedule of Events 8:00 Overview of Amyotrophic Lateral Sclerosis
Martin Brown, MD
8:45 Respiratory Therapy Care in ALSPeggy Cox, RN, RRT
9:15 Speech Therapy Care in ALS Brittney Skidmore, MS, CCC-SLP
9:45 Panel Discussion 10:00 Break 10:30 Physical Therapy Care in ALS
Kathy Paper, PT, MSPT
11:00 Occupational Therapy in ALSScott Burgener, OTR/L
11:30 Psychological Services in the patient with ALSCourtney Smith, PhD
12:00 Panel Discussion 12:30 Evaluation and Adjournment